Abstract
As discoveries regarding the genetic contribution to disease have grown rapidly, health care professionals are expected to incorporate genetic and genomic perspectives into health education and practice. Genetic competencies common to all health professionals have been identified by the US National Coalition for Health Professional Education in Genetics (NCHPEG), which defined the knowledge, skills, and attitudes required to achieve these competencies. The aim of this study is to analyze genetic competencies of primary health care professionals in Brazil. It is a descriptive survey study, whereby doctors, nurses, and dentists were invited to participate by answering a questionnaire including 11 issues based on competencies established by the NCHPEG. Data were presented as percentages. Differences between groups of participants were assessed by the Fisher exact test, with the level of significance set at p < 0.05. Results showed that concerning knowledge, about 80 % of the participants recognized basic genetics terminology, but practitioners had difficulty in identifying patterns of inheritance. Regarding clinical skills, practitioners were able to recognize facial dysmorphias and identify situations where referral of patients to specialists was necessary. Nevertheless, there were challenges in the process of valuing and gathering information about family history. Regarding attitudes, 68.9 % of the participants thought about the comprehensiveness of care but faced challenges in counselling parents. The results of this study may contribute to developing an ongoing education program for primary health care professionals, leading to a strategy to overcome the challenges of including genetics in the Brazilian Unified Health System.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Notes
Trends in Family Health Strategy national coverage—Department of Primary Care of the Ministry of Health—available at http://dab.saude.gov.br/portaldab/historico_cobertura_sf.php (accessed on October 16th, 2014).
Brazilian Society of Medical Genetics (SBGM)—available at http://www.sbgm.org.br/ (accessed on 18 October 2014).
Coordination for the Improvement of Higher Education Personnel (CAPES)—available at http://www.capes.gov.br/ (accessed on 19 October 2014).
These data were obtained through personal communications
Equivalent to US$ 6,333.04 on 16 March 2015
European Society of Human Genetics (ESHG)—available at https://www.eshg.org/139.0.html (accessed on 18 October 2014).
References
AAFP, American Academy of Family Physicians (1999) Core Educational Guidelines - Medical genetics: Recommended core educational guidelines for family practice residents. Am Fam Physician 60:305–307
ASHG, American Society of Human Genetics (1995) Report from the ASHG Information and Education Committee: medical school core curriculum in genetics. Am J Hum Genet 56(2):535–537
Battista RN, Blancquaert I, Laberge AM, van Schendel N, Leduc N (2012) Genetics in health care: an overview of current and emerging models. Public Health Genom 15:34–45
Berg AO, Baird MA, Botkin JR, Driscoll DA, Fishman PA, Guarino PD, Hiatt RA, Jarvik GP, Millon-Underwood S, Morgan TM, Mulvihill JJ, Pollin TI, Schimmel SR, Stefanek ME, Vollmer WM, Williams JK (2009) National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health: August 24-26, 2009. NIH Consens State Sci Statements 26:1–19
Brasil (2009) Ministério da Saúde, Secretaria de Gestão do Trabalho e da Educação na Saúde, Departamento de Gestão da Educação em Saúde (2009) Política Nacional de Educação Permanente em Saúde. Ministério da Saúde, Brasília. Available at: http://bvsms.saude.gov.br/bvs/publicacoes/politica_nacional_educacao_permanente_saude.pdf accessed 1 Feb 2015
Brasil (2013) Presidência da República, Casa Civil. Lei n° 12.871, de 22 outubro 2013. Institui o Programa Mais Médicos, altera as Leis no 8.745, de 9 dezembro 1993, e no 6.932, de 7 julho 1981, e dá outras providências
Brasil (2014) Ministério da Saúde, Gabinete do Ministro. Portaria no 199, de 30 janeiro 2014. Institui a Política Nacional de Atenção Integral às Pessoas com Doenças Raras, aprova as Diretrizes para Atenção Integral às Pessoas com Doenças Raras no âmbito do Sistema Único de Saúde (SUS) e institui incentivos financeiros de custeio. Available at: http://bvsms.saude.gov.br/bvs/saudelegis/gm/2014/prt0199_30_01_2014.html accessed 18 Oct 2014
Brasil IBGE, Instituto Brasileiro de Geografia e Estatística (2010) Censo Demográfico 2010. Available at http://www.cidades.ibge.gov.br/; accessed on 18 Oct 2014
Cheng TL, Cohn RD, Dover GJ (2008) The genetics revolution and primary care pediatrics. JAMA 299:451–453
Drury N, Bethea J, Guilbert P, Qureshi N (2007) Genetics support to primary care practitioners - a demonstration project. J Genet Couns 16:583–591
Elwyn G, Edwards A, Iredale R, Davies P, Gray J (2005) Identifying future models for delivering genetic services: a nominal group study in primary care. BMC Fam Pract 6:1–6
Emery J, Hayflick S (2001) The challenge of integrating genetic medicine into primary care. BMJ 322:1027–1030
Friedman JM, Blitzer M, Elsas LJ 2nd, Francke U, Willard HF (1998) Clinical objectives in medical genetics for undergraduate medical students. Association of Professors of Human Genetics, Clinical Objectives Task Force. Genet Med 1:54–55
Grosse SD, Schechter MS, Kulkarni R, Lloyd-Puryear MA, Strickland B, Trevathan E (2009) Models of comprehensive multidisciplinary care for individuals in the United States with genetic disorders. Pediatrics 123:407–412
Horovitz DD, de Faria Ferraz VE, Dain S, Marques-de-Faria AP (2013) Genetic services and testing in Brazil. J Community Genet 4:355–375
ISNG, International Society of Nurses in Genetics (2007) Genetics and Genomics Nursing: Scope and Standards of Practice. American Nursing Association, Washington, D.C. Available at: http://www.nursingworld.org/MainMenuCategories/EthicsStandards/Genetics-1/Genetics-and-Genomics-Nursing-Scope-and-Standards.pdf accessed 18 Oct 2014
Korf BR (2013) Integration of genomics into medical practice. Discov Med 16:241–248
Lea DH (2002) Position statement: integrating genetics competencies into baccalaureate and advanced nursing education. Nurs Outlook 50(4):167–168
Martin G, Currie G, Finn R (2009) Bringing genetics into primary care: findings from a national evaluation of pilots in England. J Health Serv Res Policy 14:204–211
Melo DG, Gomes TLCS (2009) Capacitação em Genética Médica para residentes em Medicina de Família e Comunidade: relato de experiência. Revista de APS 12:83–87
Melo DG, Sequeiros J (2012) The challenges of incorporating genetic testing in the unified national health system in Brazil. Genet Test Mol Biomark 16:651–655
NCHPEG, National Coalition for Health Professional Education in Genetics (2007) Core Competencies in Genetics for Health Professionals. Available at: www.nchpeg.org/index.php?option=com_content&view=article&id=237&Itemid=84 accessed 18 Oct 2014
Novoa MC, Burnham TF (2011) Challenges for the universalization of clinical genetics: the Brazilian case. Rev Panama Salud Publ 29:61–68
Orlando LA, Hauser ER, Christianson C, Powell KP, Buchanan AH, Chesnut B, Agbaje AB, Henrich VC, Ginsburg G (2011) Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system. BMC Health Serv Res 11:1–7
Orlando LA, Buchanan AH, Hahn SE, Christianson CA, Powell KP, Skinner CS, Chesnut B, Blach C, Due B, Ginsburg GS, Henrich VC (2013) Development and validation of a primary care-based family health history and decision support program (MeTree). N C Med J 74:287–296
Paim J, Travassos C, Almeida C, Bahia L, Macinko J (2011) The Brazilian health system: history, advances, and challenges. Lancet 377:1778–1797
Pinto RM, Wall M, Yu G, Penido C, Schmidt C (2012) Primary care and public health services integration in Brazil's unified health system. Am J Public Health 102:e69–e76
PNUD, Programa das Nações Unidas para o Desenvolvimento do Brasil (2013). Atlas do Desenvolvimento Humano no Brasil 2013. Available at: www.pnud.org.br accessed 18 Oct 2014
Porciúncula CGG (2004) Avaliação do ensino de genética médica nos cursos de medicina do Brasil. Dissertation, University of Campinas, Brazil
Qureshi N, Modell B, Modell M (2004) Timeline: raising the profile of genetics in primary care. Nat Rev Genet 5:783–790
Riegert-Johnson DL, Korf BR, Alford RL, Broder MI, Keats BJ, Ormond KE, Pyeritz RE, Watson MS (2004) Outline of a medical genetics curriculum for internal medicine residency training programs. Genet Med 6:543–547
Robins R, Metcalfe S (2004) Integrating genetics as practices of primary care. Soc Sci Med 59:223–233
São Paulo. SEADE, Sistema Estadual de Análise de Dados (2014) População e Estatíticas Vitais. Available at http://www.seade.gov.br/ accessed 18 Oct 2014
Starfield B, Holtzman NA, Roland MO, Sibbald B, Harris R, Harris H (2002) Primary care and genetic services. Health care in evolution. Eur J Public Health 12:51–56
Suther S, Goodson P (2003) Barriers to the provision of genetic services by primary care physicians: a systematic review of the literature. Genet Med 5:70–76
Valdez R, Yoon PW, Qureshi N, Green RF, Khoury MJ (2010) Family history in public health practice: a genomic tool for disease prevention and health promotion. Annu Rev Public Health 31:69–87
Vieira DKR, Attianezi M, Horovitz DD, Llerena JC Jr (2013a) Atenção em genética médica no SUS: a experiência de um município de médio porte. Physis 23:243–261
Vieira TA, Giugliani C, da Silva LP, Faccini LS, Loguercio Leite JC, Artigalás OA, Medeiros Lenz ML, Muñoz-Rojas MV, Giugliani R (2013b) Inclusion of medical genetics in primary health care: report of a pilot project in Brazil. J Community Genet 4:137–145
Acknowledgments
We would like to thank the research participants who willingly provided data for this investigation.
Conflict of interest
The authors have no conflicts of interest to declare.
Compliance with ethical standards
This survey was supported by CAPES (Coordination for the Improvement of Higher Education Personnel) through the Young Talents for Science Project. The research was approved by the Human Research Ethics Committee at the Federal University of São Carlos (process 162,280). All participants provided a written informed consent.
Author information
Authors and Affiliations
Corresponding author
Additional information
This article is part of the special issue on “Genetics and Ethics in Latin America”
Pamela Karen de Paula and Stephania de Araujo Rodrigues contributed equally to this work.
Rights and permissions
About this article
Cite this article
Melo, D.G., de Paula, P.K., de Araujo Rodrigues, S. et al. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education. J Community Genet 6, 231–240 (2015). https://doi.org/10.1007/s12687-015-0224-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12687-015-0224-6